Canonical Allele Identifier: CA003333

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91641
• ClinVar RCV Id: RCV000077158 ; RCV000549475 ; RCV001023693 ; RCV001090053 ; RCV001547117
• dbSNP Id: rs397507244
• gnomAD v4: 17-43063335-C-T
• MyVariant Identifiers: chr17:g.41215352C>T (hg19) ; chr17:g.43063335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063335C>T , CM000679.2:g.43063335C>T	GRCh38
NC_000017.10:g.41215352C>T , CM000679.1:g.41215352C>T	GRCh37
NC_000017.9:g.38468878C>T	NCBI36
NG_005905.2:g.154649G>A , LRG_292:g.154649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5188G>A	ENSP00000417241.2:p.Glu1730Lys
ENST00000470026.6:c.5191G>A	ENSP00000419274.2:p.Glu1731Lys
ENST00000473961.6:c.5065G>A	ENSP00000420201.2:p.Glu1689Lys
ENST00000476777.6:c.5185G>A	ENSP00000417554.2:p.Glu1729Lys
ENST00000477152.6:c.5113G>A	ENSP00000419988.2:p.Glu1705Lys
ENST00000478531.6:c.1879G>A	ENSP00000420412.2:p.Glu627Lys
ENST00000489037.2:c.5113G>A	ENSP00000420781.2:p.Glu1705Lys
ENST00000493919.6:c.1741G>A	ENSP00000418819.2:p.Glu581Lys
ENST00000494123.6:c.5191G>A	ENSP00000419103.2:p.Glu1731Lys
ENST00000497488.2:c.4303G>A	ENSP00000418986.2:p.Glu1435Lys
ENST00000618469.2:c.5191G>A	ENSP00000478114.2:p.Glu1731Lys
ENST00000634433.2:c.5068G>A	ENSP00000489431.2:p.Glu1690Lys
ENST00000644379.2:c.5257G>A	ENSP00000496570.2:p.Glu1753Lys
ENST00000644555.2:c.1741G>A	ENSP00000494614.2:p.Glu581Lys
ENST00000652672.2:c.5050G>A	ENSP00000498906.2:p.Glu1684Lys
ENST00000484087.6:c.1753G>A	ENSP00000419481.2:p.Glu585Lys
ENST00000357654.9:c.5191G>A MANE Select	ENSP00000350283.3:p.Glu1731Lys
ENST00000471181.7:c.5254G>A	ENSP00000418960.2:p.Glu1752Lys
ENST00000644379.1:c.1578G>A
ENST00000352993.7:c.1765G>A	ENSP00000312236.5:p.Glu589Lys
ENST00000357654.7:c.5191G>A	ENSP00000350283.3:p.Glu1731Lys
ENST00000461221.5:c.*4974G>A	ENSP00000418548.1:n.*4974G>A
ENST00000468300.5:c.1879G>A	ENSP00000417148.1:p.Glu627Lys
ENST00000471181.6:c.5254G>A	ENSP00000418960.2:p.Glu1752Lys
ENST00000491747.6:c.1879G>A	ENSP00000420705.2:p.Glu627Lys
ENST00000493795.5:c.5050G>A	ENSP00000418775.1:p.Glu1684Lys
ENST00000586385.5:c.121G>A	ENSP00000465818.1:p.Glu41Lys
ENST00000591534.5:c.664G>A	ENSP00000467329.1:p.Glu222Lys
ENST00000591849.5:c.-98-13145G>A	ENSP00000465347.1:n.-98-13145G>A
NM_007294.3:c.5191G>A , LRG_292t1:c.5191G>A	NP_009225.1:p.Glu1731Lys
NM_007297.3:c.5050G>A	NP_009228.2:p.Glu1684Lys
NM_007298.3:c.1879G>A	NP_009229.2:p.Glu627Lys
NM_007299.3:c.1879G>A	NP_009230.2:p.Glu627Lys
NM_007300.3:c.5254G>A	NP_009231.2:p.Glu1752Lys
NR_027676.1:n.5327G>A
NM_007294.4:c.5191G>A MANE Select	NP_009225.1:p.Glu1731Lys
NM_007297.4:c.5050G>A	NP_009228.2:p.Glu1684Lys
NM_007299.4:c.1879G>A	NP_009230.2:p.Glu627Lys
NM_007300.4:c.5254G>A	NP_009231.2:p.Glu1752Lys
NR_027676.2:n.5368G>A